Repair of Ventricular Septal Defect in Children with TAB2 Gene Anomalies and Associated Cardiomyopathy

TAB2 gene abnormalities are known to cause congenital heart disease, cardiomyopathy, and extracardiac malformations. However, there is a paucity of reports describing cardiac surgery complicated by cardiomyopathy and TAB2 gene anomalies. We present 2 cases of successful closure of ventricular septal defects (VSDs) with a dilated left ventricle and impaired cardiac function accompanied by TAB2 gene anomalies.

Patient 1, a 7-month-old boy with Klinefelter syndrome and a TAB2 variant, presented with a VSD and extracardiac features. He developed severe congestive heart failure and pulmonary hypertension with impaired biventricular function. Despite medical management, his condition worsened, necessitating surgical patch closure. Postoperatively, he required intensive support, including nitric oxide and inotropes, for low cardiac output and persistent pulmonary hypertension. He was successfully extubated on day 7. Two years after surgery, the patient remains in New York Heart Association (NYHA) functional class I with improved biventricular function. Patient 2, a 1-year-4-month-old boy with a TAB2 gene deletion (6q24.3-q25.1), presented with a VSD, cardiomyopathy, and dysmorphic features. Due to decreased biventricular function, treatment with carvedilol and enalapril maleate was initiated at 3 months of age and his cardiac function gradually improved by 1 year of age. Although surgical patch closure of the VSD was performed, postoperative biventricular failure necessitated a 7-day course of extracorporeal membrane oxygenation. His recovery was further complicated by Pseudomonas aeruginosa mediastinitis, requiring mediastinal irrigation. He was eventually extubated 45 days postoperatively and resumed medical therapy. Fifteen months after surgery, the patient remains in NYHA functional class I with significantly improved biventricular function.

Successful VSD repair was achieved in 2 children with dilated ventricles and impaired cardiac function associated with TAB2 gene abnormalities. Although continued long-term monitoring is necessary, VSD repair may improve clinical outcomes in patients with TAB2 gene abnormalities complicated by cardiomyopathy.